Canonical Allele Identifier: CA349407248

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530614A>G , CM000664.2:g.178530614A>G GRCh38
NC_000002.11:g.179395341A>G , CM000664.1:g.179395341A>G GRCh37
NC_000002.10:g.179103587A>G NCBI36
NG_011618.3:g.305189T>C , LRG_391:g.305189T>C
NG_051363.1:g.12788A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98297T>C (TTN) ENSP00000343764.6:p.Phe32766Ser
ENST00000342175.11:c.79382T>C (TTN) ENSP00000340554.6:p.Phe26461Ser
ENST00000359218.10:c.79181T>C (TTN) ENSP00000352154.5:p.Phe26394Ser
ENST00000342175.10:c.79382T>C (TTN) ENSP00000340554.6:p.Phe26461Ser
ENST00000342992.10:c.98297T>C (TTN) ENSP00000343764.6:p.Phe32766Ser
ENST00000359218.9:c.79181T>C (TTN) ENSP00000352154.5:p.Phe26394Ser
ENST00000460472.6:c.78806T>C (TTN) ENSP00000434586.1:p.Phe26269Ser
ENST00000589042.5:c.106001T>C (TTN) MANE Select ENSP00000467141.1:p.Phe35334Ser
ENST00000591111.5:c.101078T>C (TTN) ENSP00000465570.1:p.Phe33693Ser
ENST00000615779.4:c.101078T>C (TTN) ENSP00000483597.1:p.Phe33693Ser
NM_001256850.1:c.101078T>C (TTN) NP_001243779.1:p.Phe33693Ser
NM_001267550.2:c.106001T>C (TTN) MANE Select NP_001254479.2:p.Phe35334Ser
NM_003319.4:c.78806T>C (TTN) NP_003310.4:p.Phe26269Ser
NM_133378.4:c.98297T>C (TTN) NP_596869.4:p.Phe32766Ser
NM_133432.3:c.79181T>C (TTN) NP_597676.3:p.Phe26394Ser
NM_133437.4:c.79382T>C (TTN) NP_597681.4:p.Phe26461Ser
NR_038271.1:n.446+6978A>G (TTN-AS1)
NR_038272.1:n.220-5118A>G (TTN-AS1)
XM_011511729.1:c.105098T>C (TTN) XP_011510031.1:p.Phe35033Ser
XM_011511730.1:c.78992T>C (TTN) XP_011510032.1:p.Phe26331Ser
XM_011511731.1:c.78851T>C (TTN) XP_011510033.1:p.Phe26284Ser
XM_017004819.1:c.104894T>C (TTN) XP_016860308.1:p.Phe34965Ser
XM_017004820.1:c.100292T>C (TTN) XP_016860309.1:p.Phe33431Ser
XM_017004821.1:c.100289T>C (TTN) XP_016860310.1:p.Phe33430Ser
XM_017004822.1:c.97331T>C (TTN) XP_016860311.1:p.Phe32444Ser
XM_017004823.1:c.78947T>C (TTN) XP_016860312.1:p.Phe26316Ser
XM_024453094.1:c.100442T>C (TTN) XP_024308862.1:p.Phe33481Ser
XM_024453095.1:c.100439T>C (TTN) XP_024308863.1:p.Phe33480Ser
XM_024453096.1:c.99872T>C (TTN) XP_024308864.1:p.Phe33291Ser
XM_024453097.1:c.97214T>C (TTN) XP_024308865.1:p.Phe32405Ser
XM_024453098.1:c.97133T>C (TTN) XP_024308866.1:p.Phe32378Ser
XM_024453099.1:c.78896T>C (TTN) XP_024308867.1:p.Phe26299Ser
XM_024453100.1:c.68750T>C (TTN) XP_024308868.1:p.Phe22917Ser